A Genotype–Phenotype Analysis of the Bardet–Biedl Syndrome in Puerto Rico

BACKGROUND: Bardet–Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype–phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relative geographic isolation, Puerto Rico has a greater...

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Detalles Bibliográficos
Autores principales: Guardiola, Gabriel A, Ramos, Fabiola, Izquierdo, Natalio J, Oliver, Armando L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435472/
https://www.ncbi.nlm.nih.gov/pubmed/34526762
http://dx.doi.org/10.2147/OPTH.S328493

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